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European Journal of Human Genetics: EJHG

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https://www.readbyqxmd.com/read/29023440/glaucoma-spectrum-and-age-related-prevalence-of-individuals-with-foxc1-and-pitx2-variants
#1
Emmanuelle Souzeau, Owen M Siggs, Tiger Zhou, Anna Galanopoulos, Trevor Hodson, Deepa Taranath, Richard A Mills, John Landers, John Pater, James E Smith, James E Elder, Julian L Rait, Paul Giles, Vivek Phakey, Sandra E Staffieri, Lisa S Kearns, Andrew Dubowsky, David A Mackey, Alex W Hewitt, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig
This corrects the article DOI: 10.1038/ejhg.2017.59.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29023439/reconstructing-the-population-history-of-the-largest-tribe-of-india-the-dravidian-speaking-gond
#2
Gyaneshwer Chaubey, Rakesh Tamang, Erwan Pennarun, Pavan Dubey, Niraj Rai, Rakesh Kumar Upadhyay, Rajendra Prasad Meena, Jayanti R Patel, George van Driem, Kumarasamy Thangaraj, Mait Metspalu, Richard Villems
This corrects the article DOI: 10.1038/ejhg.2016.198.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29023438/the-tad-pathway-for-gwas-signals
#3
Natalia Pervjakova, Inga Prokopenko
No abstract text is available yet for this article.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29023437/22-years-of-predictive-testing-for-huntington-s-disease-the-experience-of-the-uk-huntington-s-prediction-consortium
#4
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd
This corrects the article DOI: 10.1038/ejhg.2016.36.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29023436/responsible-implementation-of-expanded-carrier-screening
#5
Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp, Borut Peterlin
This corrects the article DOI: 10.1038/ejhg.2015.271.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28875981/unraveling-genetic-predisposition-to-familial-or-early-onset-gastric-cancer-using-germline-whole-exome-sequencing
#6
Ingrid P Vogelaar, Rachel S van der Post, J Han Jm van Krieken, Liesbeth Spruijt, Wendy Ag van Zelst-Stams, C Marleen Kets, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs, Liselotte P van Hest, Hugo Pinheiro, Carla Oliveira, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Joep de Ligt, Lisenka E L M Vissers, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Jelle J Goeman, Hans K Schackert, Guglielmina N Ranzani, Valeria Molinaro, Encarna B Gómez García, Frederik J Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H Sijmons, Anja Wagner, Lizet E van der Kolk, Inga Bjørnevoll, Hildegunn Høberg-Vetti, Ad Geurts van Kessel, Roland P Kuiper, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge
Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric cancer remains largely unexplained. We performed germline whole-exome sequencing on leukocyte DNA of 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type GC to identify novel GC-predisposing candidate genes. As young age at diagnosis and familial clustering are hallmarks of genetic tumor susceptibility, we selected patients that were diagnosed below the age of 35, patients from families with two cases of GC at or below age 60 and patients from families with three GC cases at or below age 70...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28875980/autosomal-recessive-congenital-ichthyosis-cers3-mutations-identified-by-a-next-generation-sequencing-panel-targeting-ichthyosis-genes
#7
Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamidreza Mahmoudi, Maryam Daneshpazhooh, Nessa Aghazadeh, Rebecca Adams, Alireza Ghanadan, Sirous Zeinali, Paolo Fortina, Jouni Uitto
There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. In this study, we identified mutations in candidate genes in consanguineous families with ARCI with a next generation sequencing (NGS) array that incorporates 38 ichthyosis associated genes. We applied this sequencing array to DNA from 140 ichthyosis families with high prevalence of consanguinity...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28853723/ndufaf4-variants-are-associated-with-leigh-syndrome-and-cause-a-specific-mitochondrial-complex-i-assembly-defect
#8
Fabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, Liesbeth T Wintjes, Maaike Brink, Frans A van den Brandt, Callum Wilson, Richard J T Rodenburg, Leo G J Nijtmans
Mitochondrial respiratory chain complex I consists of 44 different subunits and can be subgrouped into three functional modules: the Q-, the P- and the N-module. NDUFAF4 (C6ORF66) is an assembly factor of complex I that associates with assembly intermediates of the Q-module. Via exome sequencing, we identified a homozygous missense variant in a complex I-deficient patient with Leigh syndrome. Supercomplex analysis in patient fibroblasts revealed specifically altered stoichiometry. Detailed assembly analysis of complex I, indicative of all of its assembly routes, showed an accumulation of parts of the P- and the N-module but not the Q-module...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28853722/propionic-acidemia-as-a-cause-of-adult-onset-dilated-cardiomyopathy
#9
Moniek Riemersma, Mark R Hazebroek, Appolonia T J M Helderman-van den Enden, Gajja S Salomons, Sacha Ferdinandusse, Martijn C G J Brouwers, Liesbeth van der Ploeg, Stephane Heymans, Jan F C Glatz, Arthur van den Wijngaard, Ingrid P C Krapels, Jörgen Bierau, Han G Brunner
Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseases may cause DCM, usually with onset in childhood, and in the context of systemic disease. Whether metabolic defects can also cause adult-onset DCM is currently unknown. Therefore, we performed an extensive metabolic screening in 36 consecutive adult-onset DCM patients. Diagnoses were confirmed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28853721/the-wide-spectrum-of-pot1-gene-variants-correlates-with-multiple-cancer-types
#10
Oriol Calvete, Pablo Garcia-Pavia, Fernando Domínguez, Gaelle Bougeard, Kristin Kunze, Andreas Braeuninger, Alex Teule, Adriana Lasa, Teresa Ramón Y Cajal, Gemma Llort, Victoria Fernández, Conxi Lázaro, Miguel Urioste, Javier Benitez
The POT1 protein binds and protects telomeres. Germline variants in the POT1 gene have recently been shown to be associated with risk of developing tumors in different tissues such as familial chronic lymphocytic leukemia, colorectal, glioma and melanoma tumors. Recently, we uncovered a variant in the POT1 gene (p.R117C) as causative of familial cardiac angiosarcomas (CAS) in Li-Fraumeni-like (LFL) syndrome families. Our in silico studies predicted that this protein had lost the ability to interact with TPP1 and single-stranded DNA...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28853720/the-y-chromosome-a-blueprint-for-men-s-health
#11
REVIEW
Akhlaq A Maan, James Eales, Artur Akbarov, Joshua Rowland, Xiaoguang Xu, Mark A Jobling, Fadi J Charchar, Maciej Tomaszewski
The Y chromosome has long been considered a 'genetic wasteland' on a trajectory to completely disappear from the human genome. The perception of its physiological function was restricted to sex determination and spermatogenesis. These views have been challenged in recent times with the identification of multiple ubiquitously expressed Y-chromosome genes and the discovery of several unexpected associations between the Y chromosome, immune system and complex polygenic traits. The collected evidence suggests that the Y chromosome influences immune and inflammatory responses in men, translating into genetically programmed susceptibility to diseases with a strong immune component...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28853719/viewing-the-male-specific-chromosome-y-in-a-new-light
#12
Christian F Deschepper
No abstract text is available yet for this article.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28853718/genetic-correlations-between-intraocular-pressure-blood-pressure-and-primary-open-angle-glaucoma-a-multi-cohort-analysis
#13
Hugues Aschard, Jae H Kang, Adriana I Iglesias, Pirro Hysi, Jessica N Cooke Bailey, Anthony P Khawaja, R Rand Allingham, Allison Ashley-Koch, Richard K Lee, Sayoko E Moroi, Murray H Brilliant, Gadi Wollstein, Joel S Schuman, John H Fingert, Donald L Budenz, Tony Realini, Terry Gaasterland, William K Scott, Kuldev Singh, Arthur J Sit, Robert P Igo, Yeunjoo E Song, Lisa Hark, Robert Ritch, Douglas J Rhee, Vikas Gulati, Shane Haven, Douglas Vollrath, Donald J Zack, Felipe Medeiros, Robert N Weinreb, Ching-Yu Cheng, Daniel I Chasman, William G Christen, Margaret A Pericak-Vance, Yutao Liu, Peter Kraft, Julia E Richards, Bernard A Rosner, Michael A Hauser, Caroline C W Klaver, Cornelia M vanDuijn, Jonathan Haines, Janey L Wiggs, Louis R Pasquale
Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP), while the relation between BP and POAG is controversial. The International Glaucoma Genetics Consortium (n=27 558), the International Consortium on Blood Pressure (n=69 395), and the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (n=37 333), represent genome-wide data sets for IOP, BP traits and POAG, respectively...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28832570/accurate-and-comprehensive-analysis-of-single-nucleotide-variants-and-large-deletions-of-the-human-mitochondrial-genome-in-dna-and-single-cells
#14
Filippo Zambelli, Kim Vancampenhout, Dorien Daneels, Daniel Brown, Joke Mertens, Sonia Van Dooren, Ben Caljon, Luca Gianaroli, Karen Sermon, Thierry Voet, Sara Seneca, Claudia Spits
Massive parallel sequencing (MPS) can accurately quantify mitochondrial DNA (mtDNA) single nucleotide variants (SNVs), but no MPS methods are currently validated to simultaneously and accurately establish the breakpoints and frequency of large deletions at low heteroplasmic loads. Here we present the thorough validation of an MPS protocol to quantify the load of very low frequency, large mtDNA deletions in bulk DNA and single cells, along with SNV calling by standard methods. We used a set of well-characterized DNA samples, DNA mixes and single cells to thoroughly control the study...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28832569/swegen-a-whole-genome-data-resource-of-genetic-variability-in-a-cross-section-of-the-swedish-population
#15
Adam Ameur, Johan Dahlberg, Pall Olason, Francesco Vezzi, Robert Karlsson, Marcel Martin, Johan Viklund, Andreas Kusalananda Kähäri, Pär Lundin, Huiwen Che, Jessada Thutkawkorapin, Jesper Eisfeldt, Samuel Lampa, Mats Dahlberg, Jonas Hagberg, Niclas Jareborg, Ulrika Liljedahl, Inger Jonasson, Åsa Johansson, Lars Feuk, Joakim Lundeberg, Ann-Christine Syvänen, Sverker Lundin, Daniel Nilsson, Björn Nystedt, Patrik Ke Magnusson, Ulf Gyllensten
Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28832568/uptake-of-genetic-testing-by-the-children-of-lynch-syndrome-variant-carriers-across-three-generations
#16
Toni T Seppälä, Kirsi Pylvänäinen, Jukka-Pekka Mecklin
Many Lynch syndrome (LS) carriers remain unidentified, thus missing early cancer detection and prevention opportunities. Tested probands should inform their relatives about cancer risk and options for genetic counselling and predictive gene testing, but many fail to undergo testing. To assess predictive testing uptake and demographic factors influencing this decision in LS families, a cross-sectional registry-based cohort study utilizing the Finnish Lynch syndrome registry was undertaken. Tested LS variant probands (1184) had 2068 children divided among three generations: 660 parents and 1324 children (first), 445 and 667 (second), and 79 and 77 (third)...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28832567/third-party-interpretation-of-raw-genetic-data-an-ethical-exploration
#17
REVIEW
Lauren Badalato, Louiza Kalokairinou, Pascal Borry
In the wake of recent regulations targeting direct-to-consumer genetic testing (DTC-GT), an increasing number of websites have emerged that offer consumers alternative means to derive health information from their DTC-GT raw data. While the ethical concerns associated with DTC-GT have been extensively discussed in the literature, the implications of third party interpretation (TPI) websites have remained largely unexplored. Here we sought to describe these services and elucidate their ethical implications in the context of the current DTC-GT debate...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28832565/massive-sequencing-of-70-genes-reveals-a-myriad-of-missing-genes-or-mechanisms-to-be-uncovered-in-hereditary-spastic-paraplegias
#18
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stevanin
Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a molecular diagnosis. Analysis of one of the pioneer cohorts of 193 HSP families generated in the early 1990s in Portugal highlighted that SPAST and SPG11 are the most frequent diagnoses. We have now explored 98 unsolved families from this series using custom next generation sequencing panels analyzing up to 70 candidate HSP genes...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28832564/haplotype-based-stratification-of-huntington-s-disease
#19
Michael J Chao, Tammy Gillis, Ranjit S Atwal, Jayalakshmi Srinidhi Mysore, Jamshid Arjomand, Denise Harold, Peter Holmans, Lesley Jones, Michael Orth, Richard H Myers, Seung Kwak, Vanessa C Wheeler, Marcy E MacDonald, James F Gusella, Jong-Min Lee
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplotype backbones, reflecting more than one ancestral origin of the same type of mutation. In view of the therapeutic potential of mutant allele-specific gene silencing, we have compared and integrated two major systems of HTT haplotype definition, combining data from 74 sequence variants to identify the most frequent disease-associated and control chromosome backbones and revealing that there is potential for additional resolution of HD haplotypes...
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28832562/a-clinically-driven-variant-prioritization-framework-outperforms-purely-computational-approaches-for-the-diagnostic-analysis-of-singleton-wes-data
#20
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, Tiong Y Tan, Alison Yeung, Simon Sadedin, Natalie Thorne, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Susan M White, Paul A James
Rapid identification of clinically significant variants is key to the successful application of next generation sequencing technologies in clinical practice. The Melbourne Genomics Health Alliance (MGHA) variant prioritization framework employs a gene prioritization index based on clinician-generated a priori gene lists, and a variant prioritization index (VPI) based on rarity, conservation and protein effect. We used data from 80 patients who underwent singleton whole exome sequencing (WES) to test the ability of the framework to rank causative variants highly, and compared it against the performance of other gene and variant prioritization tools...
November 2017: European Journal of Human Genetics: EJHG
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